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Dr. Rosner examines a patient's ultrasound for any abnormalities. patient needs in a single, easily acces- sible location. GENETIC TESTING Ultrasounds play an important part in the genetic counseling and testing services o€ered by the South Nassau Center for Maternal Fetal Medicine. First trimester genetic ultrasounds can help detect chro- mosomal abnormalities, such as Down syndrome or trisomy 18. Ultrasounds are also required for more invasive test- ing in patients who are at higher risk for genetic birth defects, abnormalities and chronic conditions. "If a pregnant woman is in her 20s, she may get an ultrasound and a blood test, but if she is 45, she might need special blood DNA screenings and may be a candidate for invasive testing as well," Dr. El Kady says. "Amniocentesis and chorionic villus sampling [CVS] are always performed with ultrasound guidance." Amniocentesis and CVS require the removal of cell samples from the amni- otic sac fluid, a procedure that carries a small chance of miscarriage, making the advanced training and certifications South Na ssau ha s pa r tnered w ith sema4, which originated from Mount Sinai Health Systems Icahn School of Medicine, for the engagement of genome test results. Sema4 o€ers testing for more than 280 different genetic anoma lies and a lso connects patients with their genetic counselors. GENETIC COUNSELING No matter which forms of testing parents undergo, genetic counseling is available on-site for parents whose babies test posi- tive for birth defects, genetic disorders or chromosomal abnormalities. "Genetic counselors can help guide parents in their decisions about what to do," Dr. El Kady says. "Once they are informed about their options, we support whatever decision they make." W hi le ma ny conditions ca nnot be treated or prevented, lea rning about them during pregnancy gives both parents and physicians time to prepare for the appropriate actions once the baby is born. For example, counselors at South Nassau can connect parents with support services and groups that help with logistical and held by specialists at the South Nassau Center for Materna l Feta l Medicine extremely important. M a t e r n a l s e r u m t r i p l e a n a l y t e screenings and noninvasive prenata l testing (NIPT) a re a lso available for parents with an average risk of congenital abnormalities. NIPT has a high rate of accuracy when screening for common chromosomal abnormalities including trisomy 18, 21 and 13, but it cannot screen for other conditions. "The concept behind NIPT is that, as the placenta grows, some of its cells break o€ and wind up in the mother's bloodstream," Dr. Rosner says. "The DNA in these cells can be analyzed to give us a sense of what's going on with the baby." Though triple analyte screenings are not as accurate as NIPT when looking for specific chromosomal abnormalities, they can provide a good deal of informa- tion about the potential for pregnancy complications, such as preecla mpsia and HDN. Expanded carrier screenings are also available to determine whether parents carry genes for certain disorders that can be passed to their children. 0 9 M D N E W S . C O M /// M D N E W S L O N G I S L A N D ■ 2 018